Category Genetics

GNAT2 gene

The GNAT2 gene is a genetic sequence that is responsible for encoding the alpha-subunit of transducin G protein, which plays a crucial role in visual transduction. Mutations in this gene have been found to cause various disorders related to color…

Li-Fraumeni syndrome

Li-Fraumeni Syndrome (LFS) is a rare genetic condition associated with an increased risk of developing multiple types of cancers. It was first described in 1969 by Drs. Frederick Li and Joseph Fraumeni, and it is now recognized as a well-documented…

GNPTG gene

The GNPTG gene is a key player in the development of mucolipidosis III, a rare genetic disorder that affects the metabolism of lipids in cells. Mucolipidosis III, also known as Raas-Rothschild syndrome, causes a range of symptoms including skeletal abnormalities,…

TNFRSF11B gene

The TNFRSF11B gene, also known as the osteoprotegerin (OPG) gene, is a crucial gene involved in the regulation of bone health. It plays a significant role in the development and maintenance of bones, as it is responsible for producing a…

EFEMP2 gene

The EFEMP2 gene (also known as fibrillin-5) is a gene that plays a crucial role in the development and maintenance of connective tissues. It belongs to the family of EGF-containing fibulin-like extracellular matrix proteins. The gene is listed in various…

Multiple endocrine neoplasia

Multiple endocrine neoplasia (MEN) is a rare genetic condition that causes the development of tumors in multiple endocrine glands. It is classified into two subtypes, MEN1 and MEN2, and each subtype is associated with specific genes and inheritance patterns. MEN1,…

VLDLR gene

The VLDLR gene, also known as very low density lipoprotein receptor gene, is a gene that is associated with a variety of conditions related to the cerebellum. It is listed in various databases and resources for genetic information, such as…

Rett syndrome

Rett syndrome is a rare genetic condition that primarily affects girls. It was first described in 1966 by Andreas Rett, an Austrian physician. The syndrome is characterized by a loss of purposeful hand skills, slowed growth, and developmental regression. The…

PANK2 gene

The PANK2 gene, also known as pantothenate kinase-associated neurodegeneration, encodes a type of enzyme called pantothenate kinase. This enzyme is involved in the production of coenzyme A, which is essential for various cellular processes. Mutations in the PANK2 gene have…